Associated Papers
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
Phenotypes and the Importance of Genetic Analysis in Adult Patients with Nephrolithiasis and/or Nephrocalcinosis: A Single-Center Experience.
Rusu EE et al.
Genes, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Prevalence and characteristics of genetic disease in adult kidney stone formers.
Anderegg MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
Prenatal diagnosis of cystinuria with a heterozygous pathogenic variant in SLC7A9 gene associated with isolated hyperechogenic fetal kidneys: A case report.
Aigbogun OP et al.
Clinical Case Reports, 2024
The genetics of cystinuria - an update and critical reevaluation.
Abad Baucells C et al.
Current Opinion in Nephrology and Hypertension, 2024
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience.
Beltcheva O et al.
Nephron, 2024
Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study.
Mayayo-Vallverdú C et al.
International Journal of Molecular Sciences, 2023
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients.
Liu Y et al.
Pediatric Nephrology (berlin, Germany), 2023
Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience.
Jeong JY et al.
Biomedicines, 2023
Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.
Wu CW et al.
Urolithiasis, 2023
Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability.
Lee B et al.
Urolithiasis, 2023
Genetic and clinical analysis of Chinese pediatric patients with cystinuria.
Zhan R et al.
Urolithiasis, 2022
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.
Bowling KM et al.
Genome Medicine, 2022
Ca2+-mediated higher-order assembly of heterodimers in amino acid transport system b0,+ biogenesis and cystinuria.
Lee Y et al.
Nature Communications, 2022
Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.
Villiger L et al.
Molecular Therapy. Nucleic Acids, 2021
Clinical profile of a Polish cohort of children and young adults with cystinuria.
Tkaczyk M et al.
Renal Failure, 2021
Nephroplex: a kidney-focused NGS panel highlights the challenges of PKD1 sequencing and identifies a founder BBS4 mutation.
Zacchia M et al.
Journal of Nephrology, 2021
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.
Cogal AG et al.
Kidney International Reports, 2021
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
Vaisitti T et al.
Journal of Nephrology, 2021
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study.
Alghamdi M et al.
Frontiers in Pediatrics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Predicting disease-causing variant combinations.
Papadimitriou S et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria.
Mahdavi M et al.
Molecular Biology Reports, 2018
Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.
Tostivint I et al.
Clinical Genetics, 2017
Clinical and genetic characterization of Chinese pediatric cystine stone patients.
Shen L et al.
Journal of Pediatric Urology, 2017
Associating mutations causing cystinuria with disease severity with the aim of providing precision medicine.
Martell HJ et al.
Bmc Genomics, 2017
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.
Gaildrat P et al.
Molecular Genetics & Genomic Medicine, 2017
A Novel Mutation in SLC7A9 Gene in Cystinuria.
Fazaeli S et al.
Iranian Journal of Kidney Diseases, 2017
Delineation of cystinuria in Saudi Arabia: A case series.
Obaid A et al.
Bmc Nephrology, 2017
Mutation analysis of SLC3A1 and SLC7A9 genes in patients with cystinuria.
Koulivand L et al.
Urolithiasis, 2015
Clinical and genetic analysis of patients with cystinuria in the United Kingdom.
Rhodes HL et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2015
The genetic diversity of cystinuria in a UK population of patients.
Wong KA et al.
Bju International, 2015
A new workflow for proteomic analysis of urinary exosomes and assessment in cystinuria patients.
Bourderioux M et al.
Journal of Proteome Research, 2015
Deleterious nonsynonymous single nucleotide polymorphisms in human solute carriers: the first comparison of three prediction methods.
Hao DC et al.
European Journal of Drug Metabolism and Pharmacokinetics, 2013
Molecular characterization of cystinuria in south-eastern European countries.
Popovska-Jankovic K et al.
Urolithiasis, 2013
Cystinuria: an inborn cause of urolithiasis.
Eggermann T et al.
Orphanet Journal of Rare Diseases, 2012
Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.
Barbosa M et al.
Clinical Genetics, 2012
Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes.
Gucev Z et al.
Journal of Genetics, 2011
Pathophysiology and treatment of cystinuria.
Chillarón J et al.
Nature Reviews. Nephrology, 2010